Jerome Freudenberg

Distinct activation mechanisms underlie ligand efficacy at a GPCR

This study uses deep mutational pharmacology to show how different residues in the -opioid receptor determine the efficacy of opioids by shaping distinct activation mechanisms.

Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

Accurate variant effect estimation in FACS-based deep mutational scanning data with Lilace

Lilace improves variant effect estimation in FACS-based DMS by providing uncertainty quantification and better FDR control.

Factorizing polygenic epistasis improves prediction and uncovers biological pathways in complex traits

This paper introduces EFA, a model that factorizes polygenic epistasis to improve prediction and uncover biological pathways in complex traits.

Alignment-Free Approaches for Predicting Novel Nuclear Mitochondrial Segments (NUMTs) in the Human Genome

The paper compares alignment-free and alignment-based methods for detecting NUMTs in the human genome, finding that alignment-free methods detect additional NUMTs potentially more ancestral than those found by BLAST.